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Definition and Diagnosis
Definition and Diagnosis
appreciation of the role of genetic factors in both conditions. This evidence includes the observation of much higher rates of concordance for autism in identical as opposed to (same-sex) fraternal twins, an approximately 50-fold increase in the disorder among siblings, and an increased risk to siblings of a range of other developmental problems. Although the data for Aspergers disorder are more limited, there is evidence for significant rates of this condition in family members as well. Studies of neurochemistry have not found specific biological markers, although it is clear that as a group, individuals with autism exhibited elevated levels of the neurotransmitter serotonin. Neuroimaging and neuropathological findings have included a general increase in brain size and abnormalities in the cerebellum and in structures such as the amygdala.
Recent work has highlighted the importance of studying specific social processes in autism, for example, in the ways individuals with autism view social scenes or look at faces. (257-259,Encyclopedia of applied psychology,2004)
Autism
A severe psychological disorder that first appears in early childhood and is characterized by impaired social interaction and language development, and other behavioral problems.
First described by Dr. Leo Kanner in 1943, autism is a severe psychological disorder that affects an estimated four children in 10,000. Autism manifests itself in early childhood. The autistic child is impaired socially, in language development, and exhibits other behavioral problems. This disorder is also known as infantile or childhood autism and Kanners autism. The occurrence of autism is four times higher in boys than girls. It is now believed that some of the wild or feral children found living outdoors on their own may have been autistic children abandoned by their parents. The most famous of these was Victor, the wild boy of Aveyron, discovered in 1799 at the age of approximately 11. Although he remained almost totally unable to speak, Victor showed great improvements in socialization and cognitive ability after working for several years with Jean-Marc-Gaspard Itard, a physician and teacher of the deaf. Contrary to earlier beliefs, autism is not thought to have psychological origins, such as inadequate parenting. Several possible causes of autism have been proposed, including phenylketonuria (an inherited metabolic disease), exposure to rubella or certain chemicals in utero, and hereditary predisposition. There is no accurate test for autism, although CT scans of autistic children sometimes reveal abnormalities in the ventricles of the brain. Autism is usually diagnosed in children between the ages of two and three years based on clinical observation and parental reports. Until this point, manifestations of the disorder are difficult to detect, and in some cases an autistic child will develop normally for the first year or two of life. However, a break usually occurs before the age of two and a half, when speech development (if it has begun) stops and social responses fail to develop. Children and adults with autism demonstrate a marked impairment in social interaction. Generally, it first appears in children as an inability to form a close attachment to their parents. As infants, they may refuse to cuddle and may react to physical contact by stiffening their bodies and attempting to slide away. Often, autistic children do not develop other feelings that commonly accompany emotional attachments, such as grief, sadness, guilt, or shame, and when older, they are generally impervious to being left with strangers. There is also a lack of interest in or a failure to form peer relationships, and
the ordinary desire to share experiences and interests with others tends to be lacking. Autistic children lack interest and skill in games and other typical kinds of reciprocal childs play, including imitative play. Standard nonverbal behaviors that support social interactions eye contact, facial expressions, and body languageare generally not used appropriately. Language difficulties are the single symptom that most often leads parents to seek diagnosis and help for autistic children. The development of spoken language is either delayed or totally absent in children with autism. Those who can speak still have trouble listening to others and initiating or carrying on a conversation. The speech of autistic persons often lacks normal grammatical structures and is also nonstandard in terms of such characteristics as pitch, speed, rhythm, or stress on syllables. Echolalia (echoing other peoples voices or voices heard on television) is also common. Besides social and language impairments, the other major symptom of autism is the presence of repetitive, ritualized patterns of behavior. These may be repeated physical movements, such as rocking, swaying, flapping ones arms, or clapping. Autistic behavior may also take such forms as arranging objects in specific patterns or quantities, mimicking a particular action, or performing a routine activity exactly the same way every day. Other behavioral characteristics associated with autism are a preoccupation with a single interest (often one for which a large number of facts may be collected); resistance to trivial changes in routine; fascination with a moving object (such as revolving doors) or a particular part of an object; and a strong attachment to an inanimate object. Persons with autism may exhibit oversensitivity to certain stimuli (such as light or touch), unusual pickiness in eating, inappropriate fear and/or fearlessness, and self-injuring behavior, such as head banging. As many as 25 percent of autistic children develop epileptic seizures later in life, often in adolescence, although this particular symptom appears only in those who are mentally retarded. Three-fourths of autistic children are mentally retarded, and 60 percent have IQ scores below 50. However, many demonstrate skill in music, mathematics, longterm memorization of trivial data, and specialized tasks such as assembling jigsaw puzzles. Autistic children with IQ scores of 70 and above have the best prognosis for living and working independently as adults, although only one in six children with autism becomes a well-adjusted adult, with another one out of six achieving a fair degree of adjustment. Even those autistic adults who function relatively well will still experience difficulty with social interaction and communication, and highly restricted interests and activities. Besides IQ, other predictors of future adjustment for autistic children are their degree of language development, the overall severity of their symptoms, and the types of treatment they receive. While psychotherapy has not been of value in treating
persons with autism, behavior modification, medication, and dietary recommendations have been proven effective in controlling specific symptoms. Special education programs are able to improve the social interaction of autistic children and enhance their academic skills. Developmental work that includes parents has been found to be especially helpful. (60-61,Gale encyclopediaof psychology) Biological Factors in Autism Although no consistent cause of autism has been determined, little evidence exists to support early theories of psychosocial causation of autism, such as pathogenic parenting (e.g., Bettelheim, 1967); however, numerous studies suggest that the disorder is clearly related to biological factors. For example, twin studies have demonstrated a substantial genetic predisposition toward autism, with identical twins showing a much higher concordance rate for autism than fraternal twins (Bailey et al., 1995). Other research has demonstrated that autism is associated with a number of diverse neuropathological conditions, which include phenylketonuria (PKU), congenital rubella, tuberous sclerosis, lead intoxication, congenital syphilis, Fragile X, and convulsive disorders (Dykens & Volkmar, 1997). Most children with autism fail to show the gross anomalies of brain structure or histology found in severely mentally retarded children. In addition, autism is usually not associated with generalized brain damage or hazards known to cause brain damage (Rutter & Schopler, 1987). The organic dysfunction underlying autism is apparently subtler and less discernible than that found in MR in general. A great deal of research on possible neuroanatomical anomalies in autism is now being conducted with refined neuroimaging methods, but the findings thus far are somewhat inconsistent. Courchesne (1995), for example, found that two areas in the cerebellum are smaller than normal in one subgroup of individuals with autism and larger than normal in another subgroup. Overall, there is general consensus that autism is the result of central nervous system dysfunction that results in a cluster of behavioral end products (e.g., Volkmar, 2001). The mechanisms associated with the pathophysiology in autism are numerous (e.g., genetics and neurochemical) and may wellwork in combination to produce the behavioral symptoms observed in autism spectrum disorders. (433,handbook of pediatric psychology)
Aetiology Early interest centred on the possibility that experiential factors might somehow cause autism, but a host of research findings suggests that this is not the case. Rather, a fundamental disturbance in the central nervous system is implicated. At the same time important aspects of psychological development in autism have been investigated.
Psychological factors
Disabilities affecting attentional mechanisms, arousal, sensory deficits, memory management, and complex information processing, among others, have been proposed as primary deficits underlying the social impairment in autism. Although each of these helps us understand some aspects of the condition, none has, as yet, provided a more comprehensive account of the condition as a whole.(41) Among the most influential recent theories attempting to do that is the hypothesis that posits a lack of a central drive for coherence in children with autism, with the consequent focus on dissociated fragments of their environment rather than integrated wholes', leading to a fragmentary and overly concrete experience of the world.(42) Another cognitive account of autism posits that the commonly found difficulties in abstracting rules, inhibiting irrelevant responses, shifting attention, and profiting from feedback as well as in maintaining on-line' different pieces of information while a decision is madethe so-called executive functions'underlie the social, communicative, and behavioural disabilities in autism.(43) Although both these theories weak central coherence' and executive dysfunction'provide insightful new views of wellknown clinical phenomena, neither phenomena can be seen as specific to autism (that is, relative to other developmental disorders) as the pervasive social impairment. Probably the most influential current cognitive hypothesis focuses on mechanisms directly impacting on social understanding. This view, called the theory of mind' hypothesis, posits that autism is caused by the child's inability to attribute mental states such as beliefs and intentions to others. Devoid of this ability, individuals with autism are thought to be unable to infer the thoughts and motivations of others, thus failing to predict their behaviour and adjust their own actions accordingly, which results in a lack of reciprocity in communication and social contact.(44) Although more than 30 studies have documented such deficits in autism, there are still many limitations to this hypothesis. For example, more able individuals with autism can provide detailed accounts of other people's intentions, beliefs, and feelingsi.e. they exhibit theory of mind' skillsand yet may be totally unable to utilize these capacity in their spontaneous social adjustment. Such phenomena suggest that factors other than a cognitive understanding of mental phenomena are required for a person to meet the demands of everyday social life. Researchers are now proposing more integrative theories capturing the synergistic nature of socialaffective, motivational, and cognitive mechanisms facilitating socialization.(45) Of great interest in the past few years has been the confluence of experimental psychological paradigms and functional neuroimaging studies focusing on the same constructs. This new trend is leading to new insights into brain systems subserving basic social mechanisms such as gaze behaviour, social-affective responses, and thinking about other people's intentions and beliefs,(46) all of which are greatly compromised in autism.
Biological factors
The importance of biological factors in the pathogenesis of autism is suggested by its association with mental retardation and seizure disorder, other medical conditions, and the role of genetic factors.(8,47) Individuals with autism are at increased risk for developing seizures throughout childhood and adolescence.(47,48) Various non-specific neurological signs and symptoms may also be observed.
Autism has been associated with a host of medical conditions; but the absence of population data and rigorous diagnostic assessment makes such associations difficult to interpret. For example, early reports suggested an association with congenital rubella, but this now seems questionable given the diagnostic dilemmas and the observation that autistic-like' features diminish over time.(49) Gillberg(50) argues that medical conditions may be associated with autism in as many as one-third of cases, but Rutter et al.(51) suggest that a more reasonable figure would be roughly 10 per cent of all cases. The strongest associations are with fragile X syndrome and tuberous sclerosisboth conditions having a strong genetic component. Fragile X syndrome is an X-linked mental retardation syndrome involving a mutation characterized by a triplet repeat of cytosine guanineguanine (CGG) that may amplify with succeeding generations. It is associated with a characteristic facial appearance, enlarged testicles, mental retardation, and some autistic features. Early reports suggesting high rates of fragile X in autism have now been modified; fragile X affects perhaps 1 per cent of all individuals with autism.(52) The autosomal dominant disorder tuberous sclerosis is characterized by abnormal tissue growth, or benign tumours (hamartomas), in the brain and in other organs. The condition, which may affect 1 in 10 000 individuals, is variably expressed; the phenotype ranges from minor skin problems or seizures to severe mental retardation with intractable seizures. The rate of this condition in autism (0.42.8 per cent) is significantly increased.(53) Fragile X syndrome and tuberous sclerosis are considered further in Chapter 10.4. The early impression that the role of genetic factors was limited has been modified given the association of autism with conditions like fragile X and tuberous sclerosis, and the results of twin and other family studies. Studies of monozygotic and dizygotic twins revealed higher levels of concordance for monozygotic twin pairs and elevations (relative to population rates) of autism in dizygotic twins as well.(8) General studies suggest that the recurrence risk of autism in siblings is in the order of 2 to 3 per centa 50- to 100-fold increase over the population rates. There also appear to be high rates of other developmental problems in siblings, raising the possibility that what is inherited may be a more general predisposition to developmental difficulties. Recent work also suggests elevated rates of anxiety and mood disorders in family members. However, specific modes of inheritance remain unclear. It now appears that several interacting genes are probably involved in the pathogenesis of autism. Efforts are underway to identify candidate genes and it is likely that some genetic forms of autism will be identified over the next few years. Although several studies have shown noted increased rates of pre-, peri-, and neonatal complications in children with autism, it is possible that some of these difficulties may reflect a genetic vulnerability in the child or that there may be an interaction of genetic and perinatal factors.(8) Attempts have been made to identify neuropathological and neuroanatomical correlates of autism. Areas of interest have included the cortical areas responsible for language and social interaction (frontal and temporal lobes) as well as the neostriatum and cerebellum.(47) Interest in the cerebellums followed the report of reduced cerebellar size in the neocerebellar vermal lobules VI and VII; this observation has not proven readily replicable. Some individuals with autism have enlarged brains and head sizes, whereas others, particularly the more retarded, have
smaller head sizes.(54) Neuropathological studies have suggested possible cellular changes in areas of the brain such as the hippocampus and amygdala. Various neurotransmitter systems have been studied. Probably the most robust finding has been the observation that about one-third of children with autism have increased peripheral levels of serotonin. This finding is not specific to autism and its significance remains unclear.(55) Studies of other neurotransmitters such as dopamine produced inconsistent findings. The possible involvement of dopamine is suggested by the high levels of stereotyped behaviours in autism behaviours which can be induced in animals by the administration of agents (stimulants) that affect levels of dopamine in the brain. Agents such as the neuroleptics, which block dopamine receptors, are effective in reducing the stereotyped and hyperactive behaviours of many autistic children. Another hypothesis has centred on the possible role of endogenous opioids, in that overproduction of such compounds might lead to social withdrawal and unusual sensitivities and behaviours. This has led to the administration of opioid antagonists such as naltrexone in autism; unfortunately results have been disappointing. Studies of the immune system in autism have been relatively uncommon and findings inconsistent.
(new oxford textbook of psychiatry)
Defi nition
The autism spectrum disorders (ASDs) are a group of neurodevelopmental syndromes characterized by disturbances in social interactions, language and communication, and the presence of stereotyped behaviors and interests. Diagnoses include autistic disorder, Retts disorder, childhood disintegrative disorder, Aspergers disorder and pervasive developmental disorder not otherwise specifi ed (PDD NOS) (Table 27.1).
with autism and their parents and siblings (Leventhal et al., 1990). Additionally, individuals with autism who have siblings with autism have higher platelet serotonin than autistic subjects without an autistic sibling, suggesting that hyperserotonemia may be an indicator of autism with a higher risk of sibling recurrence (Cook and Leventhal, 1996). It is clear that it is serotonin within platelets that is responsible for the fi ndings of increased whole blood hyperserotonemia. More than 99% of whole blood serotonin is contained in platelets, and platelet-poor plasma ultrafi ltrate serotonin levels are not elevated in subjects with hyperserotonemia. This suggests that patients with autism exhibit either increased serotonergic uptake in platelets, or decreased serotonergic release from platelets, leading to an increased steady-state level of serotonin. There is evidence for a positive correlation between platelet serotonin levels and the rate of platelet serotonin transport.